Disease

X-linked immunodeficiency with hyper-IgM type 11

Gene

CD40LG

Inheritance XL
Current Treatments Hematopoietic Stem Cell Transplantation (HSCT) Bone marrow transplant. Prophylaxis for pneumonia secondary to Pneumocystis jiroveci. immunoglobulin replacement
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test immunoglobulin levels, flow cytometric analysis2
Disease Frequency (per 100,000) 0.13
Genes Included in Disease Frequency CD40LG
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Hyper+IgM&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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